Variant (rsID / SNP)

rs200662317

rs200662317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,852,443. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:23852443
Cytoband: 14q11.2
HGVS: NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
Allele change: Synonymous_A1884A

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy 14|Cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.